RESUMO
Lichen sclerosus of the vulva is a common, but poorly studied disease. We assessed the level of transcriptional activity of APAF1, BAX, BCL2, BIRC5, CCND1, DAPK1, MCL1, and MYC genes encoding products that control apoptosis in the samples of tissues affected by vulvar lichen sclerosus and adjacent control tissues (n=24). Analysis of transcriptional activity was performed by real-time PCR using specific primers and SYBR Green intercalating dye. After the total group was divided by the presence of the concomitant gynecological diseases, a significant increase in the transcriptional activity of the CCND1 gene was revealed in patients with concomitant uterine fibroids. This may indicate the possible role of the activation of mitosis during tumor initiation.
Assuntos
Líquen Escleroso e Atrófico , Líquen Escleroso Vulvar , Apoptose/genética , Transformação Celular Neoplásica/patologia , Feminino , Humanos , Líquen Escleroso e Atrófico/patologia , Vulva/patologia , Líquen Escleroso Vulvar/genética , Líquen Escleroso Vulvar/patologiaRESUMO
AIM: To evaluate the frequency and spectrum of impulsive-compulsive disorders (ICDs) in patients with Parkinson's disease (PD) without dopaminergic medication and among patients receiving dopaminergic replacement therapy, depending on personality type, genetic factors, and to determine the influence of ICDs on the development of other non-motor manifestations of the disease. MATERIAL AND METHODS: Three hundred and eighty-six consecutive patients with idiopathic PD, including untreated patients with PD (de novo) and patients receiving dopaminergic replacement therapy during one year, were examined. ICDs were evaluated with QUIP and diagnostic criteria. Personality type and temperament features were assessed by the Eysenck personality inventory. Genotyping for the single nucleotide polymorphism rs141116007 in the DBH gene involved in the pathogenesis of PD and ICDs was performed. RESULTS AND CONCLUSION: ICDs were identified in 20.2% patients with PD and in 4% patients of the de novo group. The most common (10.36%) behavioral disorder was a binge eating. The frequency of ICDs among patients with PD before the onset of dopamine replacement therapy increased by 1.03 times after one year treatment. Smoking and young age were risk factors for ICDs (p<0.05). The results of the study allowed the determination of social and neuropsychological risk factors for ICDs in patients with PD. The account of these features, as well as early detection of ICDs using screening questionnaires may help to personalize treatment of patients with PD and to prevent the risk of developing comorbid non-motor manifestations of the disease.
Assuntos
Transtorno da Personalidade Compulsiva , Transtornos Disruptivos, de Controle do Impulso e da Conduta , Comportamento Impulsivo , Doença de Parkinson , Comportamento Compulsivo , Transtorno da Personalidade Compulsiva/diagnóstico , Transtorno da Personalidade Compulsiva/genética , Dopamina , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/genéticaRESUMO
Recent studies showed that brain-derived neurotrophic factor (BDNF) can participate in pathogenesis of various CNS disorders, being connected with proliferation, differentiation, and survival of neurons. In present study, analysis of occurrence rate was performed for three single nucleotide polymorphisms (SNPs) located in BDNF gene (rs6267 (A/G) allele A-0.265; rs2049046 (A/T) allele A-0.407; rs11030107 (A/G) allele A-0.872) in randomized selection of Moscow citizens. Linkage disequilibrium of rs6165 and rs2049046 loci was shown. Differences in allele frequencies in studied selection and populations of other re- gions were discovered.
Assuntos
Fator Neurotrófico Derivado do Encéfalo/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Feminino , Frequência do Gene , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , MoscouRESUMO
Results of studies on growth and development of offspring of two genetically marked dwarf pea lines planted during the whole ontogenesis cycle in the Lada space greenhouse on board of Russian Segment of International Space Station (RS ISS) are presented. The offspring of M1 and M2 plants grown from seeds formed during space flight was examined under conditions of Earth-based. Cultivation. It had been shown that growth and developmental characteristics, frequency of chromosome aberrations in primary root meristem and level of molecular polymorphism revealed in individual plants via RAPD method show no significant differences between offspring of "space-grown" and control seeds.
Assuntos
Pisum sativum/crescimento & desenvolvimento , Pisum sativum/genética , Voo Espacial , Aberrações Cromossômicas , Cromossomos de Plantas/genética , Técnica de Amplificação ao Acaso de DNA PolimórficoRESUMO
Genetic polymorphism of the Uralian relict plant species, yellow foxglove Digitalis grandiflora Mill. (family Scrophulariaceae), was examined using RAPD and ISSR techniques. A total of 149 RAPD and 74 ISSR markers were tested. The indices characterizing polymorphism and genetic diversity were calculated. The data obtained pointed to a high level of genetic variation of D. grandiflora (P95 = 65%). The cenopopulation examined was weakly differentiated with most of genetic diversity accounted by within-population differentiation.
Assuntos
Digitalis/genética , Polimorfismo Genético , Marcadores Genéticos , Técnica de Amplificação ao Acaso de DNA Polimórfico , Sequências Repetitivas de Ácido Nucleico/genética , Federação RussaRESUMO
Various pea cultivars, lines, and mutants were studied by the RAPD method. Polymorphic fragments characteristic of certain pea genotypes and which can be used for identifying genotypes were detected. Inheritance of some polymorphic RAPD fragments was studied. Mendelian inheritance of these fragments was shown. By analyzing the data obtained in studies of RAPD polymorphism, genetic distances between different pea cultivars, lines, and mutants were calculated and a genealogic dendogram showing a varying extent of differences between RAPD patterns was constructed. Ten new RAPD markers linked to various pea genes were detected. Genetic distances between RAPD markers and genes to which they are linked were calculated, and the respective disposition of RAPD markers on chromosomes was established.
Assuntos
Mapeamento Cromossômico , Genoma de Planta , Pisum sativum/genética , Polimorfismo Genético , Técnica de Amplificação ao Acaso de DNA Polimórfico , DNA de Plantas/genética , Filogenia , Especificidade da EspécieRESUMO
The authors' studies on the organization and variation of plant genome with the use of molecular markers are briefly reviewed with special emphasis on random amplified polymorphic DNA (RAPD), inter simple sequence repeat (ISSR), sequence characterized amplified region (SCAR), and cleaved amplified polymorphic sequence (CAPS) markers detected with the use of polymerase chain reaction (PCR). These markers have been demonstrated to be promising for identifying cultivars and determining the purity of genetic strains of pea. Genetic relationships between strains, cultivars, and mutants of pea have been studied. The role of molecular markers in molecular genetic mapping and localizing the genes of commercially important characters of pea has been shown. The possibility of the use of molecular markers for studying somaclonal variation and detecting mutagenic factors in plants during long-term spaceflights is considered. The prospects of using DNA markers for understanding the organization and variability of higher plant genomes are discussed.
Assuntos
Marcadores Genéticos , Variação Genética , Genoma de Planta , Plantas/genéticaRESUMO
The authors' studies on the organization and variation of plant genome with the use of molecular markers are briefly reviewed with special emphasis on random amplified polymorphic DNA (RAPD), inter simple sequence repeat (ISSR), sequence characterized amplified region (SCAR), and cleaved amplified polymorphic sequence (CAPS) markers detected with the use of polymerase chain reaction (PCR). These markers have been demonstrated to be promising for identifying cultivars and determining the purity of genetic strains of pea. Genetic relationships between strains, cultivars, and mutants of pea have been studied. The role of molecular markers in molecular genetic mapping and localizing the genes of commercially important characters of pea has been shown. The possibility of the use of molecular markers for studying somaclonal variation and detecting mutagenic factors in plants during long-term spaceflights is considered. The prospects of using DNA markers for understanding the organization and variability of higher plant genomes are discussed.
RESUMO
A polymorphic 750-bp fragment, RAPD marker, specific to particular pea genotypes (line L-111 and the Nord cultivar) was identified. Using this RAPD marker, SCAR was obtained. SCAR inheritance in the first and second generations was studied and its dominant character was shown.
Assuntos
Marcadores Genéticos , Pisum sativum/genética , Amplificação de Genes , Genoma de Planta , Técnica de Amplificação ao Acaso de DNA PolimórficoRESUMO
The genetic difference between maize line A188 and A188-derived somaclones was assessed via analysis of randomly amplified polymorphic DNA (RAPD). In total, 15 out of 17 decanucleotide primers used each allowed amplification of 2-17 fragments ranging 200-2000 bp. The RAPD patterns did not differ between individual plants of line A188, which demonstrated again its high genetic homogeneity. The difference between the initial line and the somaclones was high, ranging 64-74%. On evidence of the genetic divergence, the somaclones formed two clusters. The distribution of somaclones between these clusters was consistent with their origin.
Assuntos
Zea mays/genética , Sequência de Bases , Primers do DNA , Família Multigênica , Técnica de Amplificação ao Acaso de DNA PolimórficoRESUMO
The frequency of somatic conjugation of the 2nd and 3d chromosome pairs has been analysed in male and female neural ganglia from Drosophila melanogaster larvae D-32 line. The frequency of conjugation found for males was 1.5 times lower than for females. On this basis a supposition concerning less duration of homologous conjugation in males has been put forward. It is suggested that it is due to the differences in space arrangement of homologous chromosomes holding their conjugation.